Explain the causes, Symptoms and treatment of genetic disorders

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Explanation:

Genetic Diseases (Disorder Definition, Types, and Examples)

Medical Author: Melissa Conrad Stöppler, MD

Medical Editor: William C. Shiel Jr., MD, FACP, FACR

Medically Reviewed on 10/17/2019

Definition

Types

Single Inheritance

Multifactorial Inheritance

Chromosome Abnormalities

Mitocondrial Inheritance

Human Genome

Genetic Diseases (Disorder Definition, Types, and Examples) Center

What is a genetic disease?

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Abnormalities in an individual's genetic makeup cause genetic disease.

Abnormalities in an individual's genetic makeup cause genetic disease.

A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.

What are the four types of genetic disorders (inherited)?

There are a number of different types of genetic disorders (inherited) and include:

Single gene inheritance

Multifactorial inheritance

Chromosome abnormalities

Mitochondrial inheritance

7 single gene inheritance disorders

Single gene inheritance is also called Mendelian or monogenetic inheritance. Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. There are thousands of known single-gene disorders. These disorders are known as monogenetic disorders (disorders of a single gene).

Single-gene disorders have different patterns of genetic inheritance, including

autosomal dominant inheritance, in which only one copy of a defective gene (from either parent) is necessary to cause the condition;

autosomal recessive inheritance, in which two copies of a defective gene (one from each parent) are necessary to cause the condition; and

X-linked inheritance, in which the defective gene is present on the female, or X-chromosome. X-linked inheritance may be dominant or recessive.

Some examples of single-gene disorders include

cystic fibrosis,

alpha- and beta-thalassemias,

sickle cell anemia (sickle cell disease),

Marfan syndrome,

fragile X syndrome,

Huntington's disease, and

hemochromatosis.

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explanation:

synovial joints are characterized by the presence of a joint cavity. the walls of this space are formed by the articular capsule, a fibrous connective tissue structure that is attached to each bone just outside the area of the bone’s articulating surface. the bones of the joint articulate with each other within the joint cavity.

friction between the bones at a synovial joint is prevented by the presence of the articular cartilage, a thin layer of hyaline cartilage that covers the entire articulating surface of each bone. however, unlike at a cartilaginous joint, the articular cartilages of each bone are not continuous with each other. instead, the articular cartilage acts like a teflon® coating over the bone surface, allowing the articulating bones to move smoothly against each other without damaging the underlying bone tissue. lining the inner surface of the articular capsule is a thin synovial membrane. the cells of this membrane secrete synovial fluid (synovia = “a thick fluid”), a thick, slimy fluid that provides lubrication to further reduce friction between the bones of the joint. this fluid also provides nourishment to the articular cartilage, which does not contain blood vessels. the ability of the bones to move smoothly against each other within the joint cavity, and the freedom of joint movement this provides, means that each synovial joint is functionally classified as a diarthrosis.

outside of their articulating surfaces, the bones are connected together by ligaments, which are strong bands of fibrous connective tissue. these strengthen and support the joint by anchoring the bones together and preventing their separation. ligaments allow for normal movements at a joint, but limit the range of these motions, thus preventing excessive or abnormal joint movements. ligaments are classified based on their relationship to the fibrous articular capsule. an extrinsic ligament is located outside of the articular capsule, an intrinsic ligament is fused to or incorporated into the wall of the articular capsule, and an intracapsular ligament is located inside of the articular capsule.

at many synovial joints, additional support is provided by the muscles and their tendons that act across the joint. a tendon is the dense connective tissue structure that attaches a muscle to bone. as forces acting on a joint increase, the body will automatically increase the overall strength of contraction of the muscles crossing that joint, thus allowing the muscle and its tendon to serve as a “dynamic ligament” to resist forces and support the joint. this type of indirect support by muscles is very important at the shoulder joint, for example, where the ligaments are relatively weak.

additional structures associated with synovial joints

a few synovial joints of the body have a fibrocartilage structure located between the articulating bones. this is called an articular disc, which is generally small and oval-shaped, or a meniscus, which is larger and c-shaped. these structures can serve several functions, depending on the specific joint. in some places, an articular disc may act to strongly unite the bones of the joint to each other. examples of this include the articular discs found at the sternoclavicular joint or between the distal ends of the radius and ulna bones. at other synovial joints, the disc can provide shock absorption and cushioning between the bones, which is the function of each meniscus within the knee joint. finally, an articular disc can serve to smooth the movements between the articulating bones, as seen at the temporomandibular joint. some synovial joints also have a fat pad, which can serve as a cushion between the bones.